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ONTOLOGY REPORT - ANNOTATIONS


Term:infantile histiocytoid cardiomyopathy
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Accession:DOID:0080198 term browser browse the term
Definition:An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. (DO)
Synonyms:exact_synonym: Infantile xanthomatous cardiomyopathy;   foamy myocardial transformation of infancy;   focal lipid cardiomyopathy;   oncocytic cardiomyopathy
 primary_id: MESH:C535584
 alt_id: OMIM:500000;   RDO:0000796
 xref: GARD:9511
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infantile histiocytoid cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam135a family with sequence similarity 135, member A JBrowse link 9 30,255,057 30,335,775 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:8554872

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Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            infantile histiocytoid cardiomyopathy 3
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      cardiovascular system disease 4229
        heart disease 2342
          cardiomyopathy 928
            intrinsic cardiomyopathy 599
              infantile histiocytoid cardiomyopathy 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.